Canonical Allele Identifier: CA746044114

Gene: GNAS

Linked Data

• dbSNP Id: rs1270308197
• gnomAD v3: 20-58891624-G-GGCCC
• gnomAD v4: 20-58891624-G-GGCCC
• MyVariant Identifiers: chr20:g.57466679_57466680insGCCC (hg19) ; chr20:g.58891624_58891625insGCCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58891634_58891637dup , CM000682.2:g.58891634_58891637dup	GRCh38
NC_000020.10:g.57466689_57466692dup , CM000682.1:g.57466689_57466692dup	GRCh37
NC_000020.9:g.56900084_56900087dup	NCBI36
NG_016194.1:g.56895_56898dup
NG_016194.2:g.56895_56898dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000349036.9:c.2069-3978_2069-3975dup	ENSP00000265621.6:n.2069-3978_2069-3975du...
ENST00000419558.7:c.*43-3978_*43-3975dup	ENSP00000416234.2:n.*43-3978_*43-3975dup
ENST00000423897.7:c.2069-3978_2069-3975dup	ENSP00000412356.2:n.2069-3978_2069-3975du...
ENST00000453292.7:c.781-3978_781-3975dup	ENSP00000392000.2:n.781-3978_781-3975dup
ENST00000462499.6:c.-38-3978_-38-3975dup	ENSP00000499758.2:n.-38-3978_-38-3975dup
ENST00000464624.7:c.2160-3978_2160-3975dup	ENSP00000499607.2:n.2160-3978_2160-3975du...
ENST00000464788.6:c.-39+2421_-39+2424dup	ENSP00000499239.2:n.-39+2421_-39+2424dup
ENST00000467227.6:c.-38-3978_-38-3975dup	ENSP00000499681.2:n.-38-3978_-38-3975dup
ENST00000467321.6:c.-39+2588_-39+2591dup	ENSP00000499523.2:n.-39+2588_-39+2591dup
ENST00000469431.6:c.-39+2228_-39+2231dup	ENSP00000499654.2:n.-39+2228_-39+2231dup
ENST00000470512.6:c.-39+2281_-39+2284dup	ENSP00000499552.2:n.-39+2281_-39+2284dup
ENST00000472183.6:c.-38-3978_-38-3975dup	ENSP00000499673.2:n.-38-3978_-38-3975dup
ENST00000478585.6:c.-39+2281_-39+2284dup	ENSP00000499762.2:n.-39+2281_-39+2284dup
ENST00000480232.6:c.-39+2085_-39+2088dup	ENSP00000499545.2:n.-39+2085_-39+2088dup
ENST00000481039.6:c.-39+2726_-39+2729dup	ENSP00000499767.2:n.-39+2726_-39+2729dup
ENST00000482112.6:c.-38-3978_-38-3975dup	ENSP00000499794.2:n.-38-3978_-38-3975dup
ENST00000485673.6:c.-39+2085_-39+2088dup	ENSP00000499334.2:n.-39+2085_-39+2088dup
ENST00000488546.6:c.-39+2816_-39+2819dup	ENSP00000499332.2:n.-39+2816_-39+2819dup
ENST00000604005.6:c.-39+2302_-39+2305dup	ENSP00000474219.2:n.-39+2302_-39+2305dup
ENST00000663479.2:c.-38-3978_-38-3975dup	ENSP00000499353.2:n.-38-3978_-38-3975dup
ENST00000667293.2:c.-39+2730_-39+2733dup	ENSP00000499293.2:n.-39+2730_-39+2733dup
ENST00000676826.2:c.2069-3978_2069-3975dup	ENSP00000504675.2:n.2069-3978_2069-3975du...
ENST00000683015.1:c.909+845_909+848dup	ENSP00000506815.1:n.909+845_909+848dup
ENST00000306090.12:c.44-3978_44-3975dup	ENSP00000304472.12:n.44-3978_44-3975dup
ENST00000349036.8:c.2069-3978_2069-3975dup	ENSP00000265621.5:n.2069-3978_2069-3975du...
ENST00000354359.12:c.-93_-90dup	ENSP00000346328.7:n.-93_-90dup
ENST00000371085.8:c.-93_-90dup MANE Select	ENSP00000360126.3:n.-93_-90dup
ENST00000371100.9:c.2069-3978_2069-3975dup MANE Plus Clinical	ENSP00000360141.3:n.2069-3978_2069-3975du...
ENST00000419558.6:c.*43-3978_*43-3975dup	ENSP00000416234.2:n.*43-3978_*43-3975dup
ENST00000423897.6:c.2069-3978_2069-3975dup	ENSP00000412356.2:n.2069-3978_2069-3975du...
ENST00000453292.6:c.*43-3978_*43-3975dup	ENSP00000392000.2:n.*43-3978_*43-3975dup
ENST00000461152.6:c.909+845_909+848dup	ENSP00000499274.1:n.909+845_909+848dup
ENST00000481768.6:c.2227-3978_2227-3975dup	ENSP00000499644.2:n.2227-3978_2227-3975du...
ENST00000490374.6:n.223-3978_223-3975dup
ENST00000657090.1:c.-38-3978_-38-3975dup	ENSP00000499380.1:n.-38-3978_-38-3975dup
ENST00000663479.1:c.-38-3978_-38-3975dup	ENSP00000499353.1:n.-38-3978_-38-3975dup
ENST00000667293.1:c.11-3978_11-3975dup	ENSP00000499293.1:n.11-3978_11-3975dup
ENST00000676826.1:c.2069-3978_2069-3975dup	ENSP00000504675.1:n.2069-3978_2069-3975du...
ENST00000265620.11:c.-93_-90dup	ENSP00000265620.7:n.-93_-90dup
ENST00000313949.11:c.*43-3978_*43-3975dup	ENSP00000323571.7:n.*43-3978_*43-3975dup
ENST00000349036.7:c.188-3978_188-3975dup	ENSP00000265621.4:n.188-3978_188-3975dup
ENST00000354359.11:c.-93_-90dup	ENSP00000346328.7:n.-93_-90dup
ENST00000371075.7:c.*43-3978_*43-3975dup MANE Plus Clinical	ENSP00000360115.3:n.*43-3978_*43-3975dup
ENST00000371085.7:c.-93_-90dup	ENSP00000360126.3:n.-93_-90dup
ENST00000371095.7:c.-93_-90dup	ENSP00000360136.3:n.-93_-90dup
ENST00000371098.6:c.*43-3978_*43-3975dup	ENSP00000360139.2:n.*43-3978_*43-3975dup
ENST00000371100.8:c.2069-3978_2069-3975dup	ENSP00000360141.3:n.2069-3978_2069-3975du...
ENST00000371102.8:c.2069-3978_2069-3975dup	ENSP00000360143.4:n.2069-3978_2069-3975du...
ENST00000419558.5:c.384-3978_384-3975dup
ENST00000423897.5:c.157-3978_157-3975dup
ENST00000450130.5:c.228-3978_228-3975dup
ENST00000453292.5:c.544-3978_544-3975dup	ENSP00000392000.1:n.544-3978_544-3975dup
ENST00000461152.5:n.147+845_147+848dup
ENST00000462499.5:n.259-3978_259-3975dup
ENST00000464624.6:n.2124_2127dup
ENST00000464788.5:n.67+2421_67+2424dup
ENST00000464960.5:n.406+2816_406+2819dup
ENST00000467227.5:n.123-3978_123-3975dup
ENST00000467321.5:n.154+2588_154+2591dup
ENST00000468895.5:n.50+2726_50+2729dup
ENST00000469431.5:n.256+2228_256+2231dup
ENST00000470512.5:n.210+2281_210+2284dup
ENST00000472183.5:n.392-3978_392-3975dup
ENST00000477931.5:n.254+2281_254+2284dup
ENST00000478585.5:n.194+2281_194+2284dup
ENST00000480232.5:n.155+2085_155+2088dup
ENST00000480975.5:n.183+2281_183+2284dup
ENST00000481039.5:n.56+2730_56+2733dup
ENST00000481768.5:n.1324-3978_1324-3975dup
ENST00000482112.5:n.259-3978_259-3975dup
ENST00000484504.5:n.127+2281_127+2284dup
ENST00000485673.5:n.426+2085_426+2088dup
ENST00000488546.5:n.40+2816_40+2819dup
ENST00000490374.5:n.255-3978_255-3975dup
ENST00000491348.5:n.534-3978_534-3975dup
ENST00000493744.5:n.233-3978_233-3975dup
ENST00000604005.5:c.-39+2302_-39+2305dup	ENSP00000474219.1:n.-39+2302_-39+2305dup
NM_000516.4:c.-93_-90dup	NP_000507.1:n.-93_-90dup
NM_000516.5:c.-93_-90dup	NP_000507.1:n.-93_-90dup
NM_001077488.2:c.-93_-90dup	NP_001070956.1:n.-93_-90dup
NM_001077488.3:c.-93_-90dup	NP_001070956.1:n.-93_-90dup
NM_001077489.2:c.-93_-90dup	NP_001070957.1:n.-93_-90dup
NM_001077489.3:c.-93_-90dup	NP_001070957.1:n.-93_-90dup
NM_001077490.1:c.*1-3978_*1-3975dup	NP_001070958.1:n.*1-3978_*1-3975dup
NM_001077490.2:c.*1-3978_*1-3975dup	NP_001070958.1:n.*1-3978_*1-3975dup
NM_001309840.1:c.-39+2281_-39+2284dup	NP_001296769.1:n.-39+2281_-39+2284dup
NM_001309842.1:c.-93_-90dup	NP_001296771.1:n.-93_-90dup
NM_001309861.1:c.-38-3978_-38-3975dup	NP_001296790.1:n.-38-3978_-38-3975dup
NM_001309883.1:c.*159-3978_*159-3975dup	NP_001296812.1:n.*159-3978_*159-3975dup
NM_016592.2:c.*43-3978_*43-3975dup	NP_057676.1:n.*43-3978_*43-3975dup
NM_016592.3:c.*43-3978_*43-3975dup	NP_057676.1:n.*43-3978_*43-3975dup
NM_080425.2:c.2069-3978_2069-3975dup	NP_536350.2:n.2069-3978_2069-3975dup
NM_080425.3:c.2069-3978_2069-3975dup	NP_536350.2:n.2069-3978_2069-3975dup
NM_080426.2:c.-93_-90dup	NP_536351.1:n.-93_-90dup
NM_080426.3:c.-93_-90dup	NP_536351.1:n.-93_-90dup
NR_003259.1:c.-4294967067+2281_-4294967067+2284dup
NR_132273.1:n.406+2816_406+2819dup
XM_017027812.2:c.2069-3978_2069-3975dup	XP_016883301.1:n.2069-3978_2069-3975dup
XM_017027813.2:c.2069-3978_2069-3975dup	XP_016883302.1:n.2069-3978_2069-3975dup
XM_017027814.2:c.2069-3978_2069-3975dup	XP_016883303.1:n.2069-3978_2069-3975dup
XM_017027815.1:c.44-3978_44-3975dup	XP_016883304.1:n.44-3978_44-3975dup
XM_017027816.1:c.-397_-394dup	XP_016883305.1:n.-397_-394dup
XM_017027817.1:c.-39+2281_-39+2284dup	XP_016883306.1:n.-39+2281_-39+2284dup
XM_017027819.1:c.-39+2302_-39+2305dup	XP_016883308.1:n.-39+2302_-39+2305dup
XM_017027821.1:c.*43-3978_*43-3975dup	XP_016883310.1:n.*43-3978_*43-3975dup
XM_017027822.1:c.*43-3978_*43-3975dup	XP_016883311.1:n.*43-3978_*43-3975dup
XM_024451872.1:c.44-3978_44-3975dup	XP_024307640.1:n.44-3978_44-3975dup
XM_024451875.1:c.-39+2302_-39+2305dup	XP_024307643.1:n.-39+2302_-39+2305dup
XR_002958471.1:n.533_536dup
NM_000516.6:c.-93_-90dup	NP_000507.1:n.-93_-90dup
NM_001077488.4:c.-93_-90dup	NP_001070956.1:n.-93_-90dup
NM_001077489.4:c.-93_-90dup	NP_001070957.1:n.-93_-90dup
NM_001309840.2:c.-39+2281_-39+2284dup	NP_001296769.1:n.-39+2281_-39+2284dup
NM_001309842.2:c.-93_-90dup	NP_001296771.1:n.-93_-90dup
NM_001309861.2:c.-38-3978_-38-3975dup	NP_001296790.1:n.-38-3978_-38-3975dup
NM_016592.4:c.*43-3978_*43-3975dup	NP_057676.1:n.*43-3978_*43-3975dup
NM_080426.4:c.-93_-90dup	NP_536351.1:n.-93_-90dup
NM_000516.7:c.-93_-90dup MANE Select	NP_000507.1:n.-93_-90dup
NM_001077488.5:c.-93_-90dup	NP_001070956.1:n.-93_-90dup
NM_001077490.3:c.*1-3978_*1-3975dup	NP_001070958.1:n.*1-3978_*1-3975dup
NM_016592.5:c.*43-3978_*43-3975dup MANE Plus Clinical	NP_057676.1:n.*43-3978_*43-3975dup
NM_080425.4:c.2069-3978_2069-3975dup MANE Plus Clinical	NP_536350.2:n.2069-3978_2069-3975dup